Canonical Allele Identifier: CA31497958
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 964317
ClinVar RCV Id: RCV001238511
dbSNP Id: rs779448658
gnomAD v2: 1-160100239-G-C
gnomAD v3: 1-160130449-G-C
gnomAD v4: 1-160130449-G-C
MyVariant Identifiers: chr1:g.160100239G>C (hg19) chr1:g.160130449G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130449G>C , CM000663.2:g.160130449G>C GRCh38
NC_000001.10:g.160100239G>C , CM000663.1:g.160100239G>C GRCh37
NC_000001.9:g.158366863G>C NCBI36
NG_008014.1:g.19692G>C , LRG_6:g.19692G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1679G>C MANE Select ENSP00000354490.3:p.Gly560Ala
ENST00000361216.7:c.1679G>C ENSP00000354490.3:p.Gly560Ala
ENST00000392233.7:c.1679G>C ENSP00000376066.3:p.Gly560Ala
ENST00000447527.1:c.811G>C
ENST00000472488.5:n.1782G>C
NM_000702.3:c.1679G>C NP_000693.1:p.Gly560Ala
NM_000702.4:c.1679G>C MANE Select NP_000693.1:p.Gly560Ala
Search 100 bp 5'
Search 100 bp 3'